Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.P1009fs

AHDC1

257 papers

RefSeq Summary

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014].

Pfam Domains

DUF4683aa 570–642UCSCDomain of unknown function (DUF4683)

Gene Aliases

HGNC Name

AT-hook DNA binding motif containing 1

HGNC Alias Symbols

DJ159A19.3; RP1-159A19.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371928.1
p.P1009fs
c.3025_3026fs
Surrounding Variants
2 papers
NM_001371928.1
p.S1007_L1008insFs
c.3019_3023dup5
1 paper
NM_001371928.1
p.N1006_S1007insFs
c.3018_3019ins5
1 paper
NM_001371928.1
p.A1021fs
c.3061_3062fs
1 paper
NM_001371928.1
p.A1021V
c.3062C>T
1 paper
NM_001371928.1
p.K996R
c.2987A>G
1 paper
NM_001371928.1
p.T1025I
c.3074C>T
1 paper
NM_001371928.1
p.Y1020_T1025delFs
c.3060_3073del14
1 paper
NM_001371928.1
p.Q990*
c.2968C>T
1 paper
NM_001371928.1
p.A976_T988del13
c.2926_2963del39
1 paper
NM_001371928.1
p.K985*
c.2953A>T
1 paper
NM_001371928.1
p.T984fs
c.2950_2951fs
1 paper
NM_001371928.1
p.P983insFs
c.2948dupC
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